Gene Summary

Name:
ankyrin repeat and FYVE domain containing 1
Synonyms:
Ankhzn

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Ankfy1tm1b(KOMP)Mbp HOM   E9.5 0.00
abnormal heart morphology Ankfy1tm1b(KOMP)Mbp HET Early adult 0.00
embryonic lethality prior to tooth bud stage Ankfy1tm1b(KOMP)Mbp HOM   E12.5 0.00
small superior vagus ganglion Ankfy1tm1b(KOMP)Mbp HET Early adult 0.00
hydrometra Ankfy1tm1b(KOMP)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Ankfy1tm1b(KOMP)Mbp HOM   Early adult 0.00
enlarged heart Ankfy1tm1b(KOMP)Mbp HET Early adult 0.00
increased monocyte cell number Ankfy1tm1b(KOMP)Mbp HET Early adult 7.34×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

129 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Gross Morphology Embryo E9.5

Images

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ankfy1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ankfy1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genetic Steroid-Resistant Nephrotic Syndrome
ORPHA:656

The table below shows human diseases predicted to be associated to Ankfy1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Generalized... OMIM:213200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Ataxia, Generalized hypotonia, Hypotonia, Tremor OMIM:213000
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Gait ataxia, Spasticity, Gliosis, Torticollis OMIM:618369
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia,... OMIM:617018
Spastic Paraplegia 62, Autosomal Recessive
Thoracic scoliosis, Spastic gait, Lower limb spasticity, Abnormal cerebellum morphology, Spastici... OMIM:615681
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor ORPHA:217012
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Intention tremor, Apraxia, Bradykinesia, A... OMIM:607136
Huntington Disease
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... OMIM:143100
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... ORPHA:101010
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Autosomal Recessive Spastic Paraplegia Type 62
Thoracic scoliosis, Spastic gait, Lower limb spasticity, Abnormal cerebellum morphology, Clonus, ... ORPHA:401785
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Abnormal pons morphology, Cerebellar cortical atrophy, Impaired v... ORPHA:171622
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Cogwheel rigidity, Gait disturbance, Myoc... ORPHA:363710
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Cerebellar Ataxia, Cayman Type
Intention tremor, Cerebellar hypoplasia, Gait ataxia, Generalized hypotonia, Nonprogressive cereb... ORPHA:94122
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Cerebellar atrophy, Cerebellar hypoplasia, Unsteady gait, Spasticity, Limb ataxia, ... OMIM:615768
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Abnormal cerebellum morphology, Poor coordination, Scoliosis, Spasticity, Clum... OMIM:270500
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Generalized hypoto... OMIM:617917
Spastic Paraplegia 32, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Spastic paraplegia, Ba... OMIM:611252
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Tremor OMIM:615889
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Cerebellar hypoplasia, Unsteady gait, Generalized hypotonia, Hypotonia, Truncal ataxia... OMIM:616127
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Ethanolaminosis
Cardiomegaly OMIM:227150
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Cerebellar hypoplasia, Spastic dysarthria, Unste... ORPHA:314978
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia OMIM:615268
Pontocerebellar Hypoplasia, Type 4
Cerebellar hypoplasia, Gliosis, Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypo... OMIM:225753
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Oromandibular dystoni... ORPHA:521406
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Diffuse cerebral atrophy, Abnormality... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Kyphosis, Ataxia, Gait ataxia, Scoliosis, Spasticity, Limb ataxia OMIM:610743
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Upper limb spasticity, Lower limb spasticity, Spastic paraplegia, Scoliosis, Gait distu... OMIM:611225
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia, Hypotonia, Appendicular hypotonia OMIM:619333
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... ORPHA:276193
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:616187
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Shuffling gait, Apraxia, Global brain atrophy, Bradyki... OMIM:221820
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Cerebellar atrophy, Dysmetria, Intention tremor, Lower limb spasticity, ... OMIM:616948
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... ORPHA:98762
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Distal sen... OMIM:604484
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Neur... OMIM:610245
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Generalized hypotonia, Spas... OMIM:608029
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxi... ORPHA:98763
Developmental And Epileptic Encephalopathy 14
Generalized hypotonia, Tetraplegia, Spasticity, Clonus, Cerebral cortical atrophy, Hypotonia, Gli... OMIM:614959
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Generalized hypotonia, ... OMIM:617862
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Hypertonia, Dystonia, Kyphosis, Ca... OMIM:617435
Behr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, T... OMIM:210000
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Inability to walk, Generalized hypotonia, Rigidity, Gait disturban... OMIM:618090
Spinocerebellar Ataxia Type 5
Incoordination, Cerebellar atrophy, Slurred speech, Gait disturbance ORPHA:98766
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cerebellar atrophy, Spastic gait OMIM:617133
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Diffuse cerebral atrophy, Gait disturbance, Babinski sign, Tremor OMIM:300660
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait OMIM:616410
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Kyphosis, Upper limb spasticity, Head tremor,... OMIM:614409
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Thoracic kyphosis, Thoracic scoliosis, Cerebellar hypoplasia, Glob... OMIM:610185
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Involuntary movem... ORPHA:157941
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Intention tremor, Ataxia, Neonatal hypotonia OMIM:302500
Spinocerebellar Ataxia 35
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... OMIM:613908
Spinocerebellar Ataxia Type 20
Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Isometric tremor, Intention tremor, ... ORPHA:101110
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tetraparesis, Cerebellar atrophy, Dystonia, Inability to walk, Ataxia, Generalized hypotonia, Fai... OMIM:618276
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Intention tremor, Ataxia, Rigidity, Myoclonus, Cerebellar vermis hypoplasia OMIM:618876
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis OMIM:611694
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Dystonia, Kyphosis, Obesity, Lower limb spasticity, Inability to walk, Ataxia, ... OMIM:616756
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Aplasia/Hypoplasia of the ce... ORPHA:401820
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... ORPHA:251282
Spinocerebellar Ataxia 38
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:615957
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dysmetria, Dystonia, Cerebellar hypoplasia, Spastic dysarthria, Progressive cerebellar ataxia, Ga... ORPHA:314603
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... ORPHA:423275
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
X-Linked Progressive Cerebellar Ataxia
Frequent falls, Dysmetria, Cerebellar vermis atrophy, Spastic dysarthria, Intention tremor, Unste... ORPHA:1175
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Cerebellar atrophy, Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebella... OMIM:606183
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... OMIM:128230
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Substantia nigra gliosis, Rigidity, Gait ... OMIM:600116
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Spastic tetraplegia, Spastic paraplegia, Cerebral palsy, Neonatal hypotonia, ... OMIM:612936
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... OMIM:613728
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Cerebellar atrophy, Choreoathetosis, Generalized hypotonia, Rigidity, Spasticit... OMIM:616981
Machado-Joseph Disease
Cerebellar atrophy, Parkinsonism, Dystonia, Dilated fourth ventricle, Impaired vibratory sensatio... OMIM:109150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Ataxia, Steppage gait, Gait ataxia, Distal sensory impairment, Tremor OMIM:618387
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Inability to walk, Lower lim... OMIM:619389
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Generalized hypotonia, Hypotonia, Myoclonus,... OMIM:612016
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progress... OMIM:604326
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Tremor, Abnormal cerebellum morphology, Truncal obesity, Hypotonia, Sp... OMIM:300957
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Babinski sign OMIM:614322
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Cerebellar atrophy, Parkinsonism, Resting tremor, Impaired vibratory sen... OMIM:617225
Spinocerebellar Ataxia 19
Cerebellar atrophy, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia, T... OMIM:607346
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Inability to walk, Lower limb spasticity, Ataxia, Failure to thrive, Dysto... ORPHA:280210
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Neuroectodermal Melanolysosomal Disease
Hypertonia, Cerebral cortical hemiatrophy, Cerebellar hypoplasia, Ataxia, Abnormal cerebellar ver... ORPHA:33445
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Axial hypotonia, Chorea, Tremor ORPHA:494526
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Paroxysmal dystonia, Babinski sign, ... OMIM:606777
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Dystonia, Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Spastic gait, Dystonia, Spastic paraplegia, Ataxia, Lower limb spasticity, Im... OMIM:607565
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Bradykinesia, Impaire... OMIM:300423
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Impaired pain sensation, Ataxia, Scoliosis, Gait disturbance, Tremor ORPHA:101075
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Gait ataxia, ... OMIM:616192
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Gait ataxia, Scoliosis, Spasticity, Cerebral cortical at... OMIM:611390
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Small for gestational age, Spasticity, Gliosis, Hypertonia OMIM:615095
Spinocerebellar Ataxia 28
Cerebellar atrophy, Parkinsonism, Dystonia, Gait ataxia, Spasticity, Limb ataxia, Babinski sign, ... OMIM:610246
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... ORPHA:204
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tr... OMIM:619028
Spinocerebellar Ataxia, X-Linked 3
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Unilateral vocal cord paralysis,... OMIM:301790
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, T... OMIM:616719
Familial Infantile Bilateral Striatal Necrosis
Tetraparesis, Spastic tetraparesis, Frequent falls, Dystonia, Basal ganglia gliosis, Choreoatheto... ORPHA:225154
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Failure to thrive, Spasticity, Myoclonus, Tremor OMIM:616494
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Dysmetria, Spastic gait, Spastic paraplegia, Ataxia, Lower limb spasticity, B... OMIM:610357
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Apraxia, Global brain atrophy... ORPHA:275872
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Cerebral atrophy, Abnormal pyramidal sign, Impaired proprioception, Spastic dysarthria, Head trem... ORPHA:352641
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Motor stereotypy, Overweight, Hypotonia, Gait disturbance, Gliosis, Upper l... ORPHA:457240
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Action tremor, Dysmetria, Frequent falls, Apraxia, Extrapyramidal muscular ri... ORPHA:93952
Neurodegeneration With Brain Iron Accumulation
Cerebellar atrophy, Dystonia, Rigidity, Spasticity, Chorea, Abnormality of extrapyramidal motor f... ORPHA:385
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic tetraparesis, Generalized hypotonia, Scoliosis, Progressive spastic p... ORPHA:496756
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Myo... OMIM:600143
Leukodystrophy, Hypomyelinating, 18
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Spastic te... OMIM:618404
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Unste... OMIM:256600
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Ataxia, Gait ataxia, Chorea, Cachexia, Bab... OMIM:618093
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Cerebellar atrophy, Parkin... ORPHA:98759
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Impaired pain sensation, Ataxia, Scoliosis, Gait disturbance, Tremor ORPHA:101078
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Dystonia, Apraxia, Ataxia, Spasticity, Hem... ORPHA:71277
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Generalized hyp... OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dilated fourth ventricle, Retrocerebellar... OMIM:614831
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dystonia, Ataxia, Gait disturbance, Gait ... OMIM:617145
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Generalized h... OMIM:614946
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Apr... OMIM:615157
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Abnormal pyramidal sign, Parkinsonis... OMIM:617672
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Oral motor hypotonia, Bradykinesia, Atax... ORPHA:248111
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... OMIM:105550
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Neuronal l... OMIM:615924
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Fasciculations, Degeneration of anterior horn cells... OMIM:607596
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Gait ataxia, Inf... ORPHA:512260
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Porphyria, Acute Hepatic
Paralysis, Paresthesia, Generalized hypotonia, Failure to thrive, Respiratory paralysis, Hypotonia OMIM:612740
Spinocerebellar Ataxia 42
Cerebellar atrophy, Abnormal pyramidal sign, Spastic gait, Ataxia, Unsteady gait, Loss of Purkinj... OMIM:616795
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Spastic tetraplegia, Ataxia, Generalized hypotonia, Scoliosis, Spasticity OMIM:617207
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/H... ORPHA:401830
Roussy-Lévy Syndrome
Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation, Impaired pain sensatio... ORPHA:3115
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Distal sensory impairment, Kyphosis, Difficulty walking, Scoliosis OMIM:617087
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Cerebellar vermis atrophy, Ataxia, Gait ... ORPHA:1170
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation in the lowe... OMIM:600363
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Dysmetria, Abnormal pyramidal sign, Titubat... ORPHA:397946
Spastic Paraplegia 26, Autosomal Recessive
Frequent falls, Dysmetria, Spastic gait, Dystonia, Spastic paraplegia, Abnormal cerebellum morpho... OMIM:609195
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... OMIM:609270
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Generalized hypotonia, Ataxia, Tremor OMIM:619099
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Dystonia, Ataxia, Unsteady gai... ORPHA:79263
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Resting tremor, Shuffling gait, Dystonia, ... ORPHA:391411
Spinocerebellar Ataxia 7
Dysmetria, Olivopontocerebellar atrophy, Progressive cerebellar ataxia, Spasticity, Chorea, Babin... OMIM:164500
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar hypoplasia, Gait ataxia, Hypotonia, G... OMIM:224050
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Gait ataxia, Limb ataxia, Positive Romberg sign OMIM:617770
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Generalized hypotonia, Rigidity, Chiari type I malformation, Tremor OMIM:617836
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Frequent falls, Choreoathetosis, Small for gestational age, Dilated fourth ventricle, Cerebellar ... OMIM:619054
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis, Difficulty walking OMIM:608634
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Cerebellar atrophy, Ataxia, Unsteady gait OMIM:615705
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Frequent falls, Dysmetria, Dystonia, Intention tremor, Unsteady gait, Gait ataxia, Truncal ataxia... ORPHA:453521
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:615386
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Spastic gait, Upper limb spasticity, Spastic paraparesis, Spastic ... OMIM:275900
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Impaired vibrat... ORPHA:98
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Cerebellar hypoplasia, Apraxia, Inability to walk, Gait ataxia, Sp... OMIM:617810
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Impaired proprioception, Impaired vibratory sensation, Limb dystonia, Failure to thrive... ORPHA:319199
Spinocerebellar Ataxia 5
Incoordination, Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Intention tremor, Ga... OMIM:600224
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Kyphosis, Inability to walk, Gait ataxi... OMIM:617988
Spastic Paraplegia 53, Autosomal Recessive
Dystonia, Kyphosis, Impaired vibratory sensation, Spastic paraplegia, Lower limb hypertonia, Clon... OMIM:614898
Spinocerebellar Ataxia 29
Dysmetria, Cerebellar vermis atrophy, Intention tremor, Gait ataxia, Impaired tandem gait, Hypoto... OMIM:117360
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... ORPHA:71517
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Action tremor, Ataxia OMIM:300703
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Caudate atrophy, Apraxia, Spasticity, Gait disturbance, Gliosis, Babinski sign,... OMIM:221770
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Autosomal Recessive Ataxia, Beauce Type
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Kyphosis, Impaired v... ORPHA:88644
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Progressive cerebellar ataxia, Hypotonia, ... ORPHA:139485
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Atypical Rett Syndrome
Dystonia, Kyphosis, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary movements,... ORPHA:3095
Spastic Paraplegia 10, Autosomal Dominant
Spastic gait, Parkinsonism, Lower limb spasticity, Spastic paraplegia, Ataxia, Impaired vibration... OMIM:604187
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Gliosis, Neuronal loss in central nervous system, Ab... OMIM:604218
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Short neck, Ataxia, Tremor OMIM:618951
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Abnormal cerebellum morphology, Ataxia, Spasticity, Corpus callosum atrophy, Gliosis, Babinski si... OMIM:169500
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal at... ORPHA:98764
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Leigh Syndrome
Dystonia, Ataxia, Hepatocellular necrosis, Generalized hypotonia, Failure to thrive, Spasticity, ... OMIM:256000
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Cerebellar atrophy, Paralysis, Generalized hypotonia, Hypotonia OMIM:616286
Glutathionuria
Tremor OMIM:231950
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebral atrophy, Cerebellar atrophy, Hypertonia, Abnormal cerebellum morphology, Impaired vibrat... ORPHA:137898
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Upper limb spasticity, Spastic dys... ORPHA:320391
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis OMIM:616871
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Impaired pain sensation, Ataxia, Paraparesis, Scoliosis, Gait disturbance, Tremor ORPHA:99014
L-2-Hydroxyglutaric Aciduria
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Global brain atrophy, Corpus c... OMIM:236792
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Unsteady gait, Generalized hypotonia, H... OMIM:614947
Spinocerebellar Ataxia Type 2
Kinetic tremor, Parkinsonism, Dystonia, Fasciculations, Progressive cerebellar ataxia, Gait ataxi... ORPHA:98756
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Small for gestational age, Tremor OMIM:278780
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Dysmetria, Hypertonia, Intention tremor, Ataxia, Steppage gait, Cerebellar gl... OMIM:616505
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Ataxia, Generalized h... OMIM:618088
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Rigidity, Clonus, Gliosis, Neuronal loss in central nervous system, Babinski si... OMIM:614498
Epilepsy, Progressive Myoclonic, 6
Ataxia, Scoliosis, Difficulty walking, Myoclonus, Tremor OMIM:614018
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Gait disturbance, Rigid... OMIM:213600
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Generalized hypotonia, Failure to thrive, Spasti... OMIM:617954
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Scoliosis, Ataxia, Tremor OMIM:616421
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Hypertonia, Fasciculations, Lo... OMIM:618598
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Paralysis, Difficulty walking OMIM:605285
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impair... OMIM:605361
Pontocerebellar Hypoplasia, Type 2A
Extrapyramidal dyskinesia, Opisthotonus, Cerebellar hypoplasia, Gliosis, Cerebral cortical atroph... OMIM:277470
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progr... ORPHA:352403
Hypermanganesemia With Dystonia 2
Opisthotonus, Dystonia, Scoliosis, Scissor gait, Hypotonia, Tremor, Ankle clonus, Cerebellar atro... OMIM:617013
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Huntington Disease-Like 1
Incoordination, Dysmetria, Basal ganglia gliosis, Global brain atrophy, Unsteady gait, Rigidity, ... OMIM:603218
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Cerebellar calcifications, Generalized dystonia, Bradykinesia, Limb dystonia, Rigid... OMIM:618824
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Diffuse cerebral atrophy, Gait disturbance, Ba... ORPHA:314632
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Ataxia, Gait ataxia, ... ORPHA:208513
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Cerebellar vermis atrop... OMIM:312080
Hyperphenylalaninemia, Bh4-Deficient, D
Generalized hypotonia, Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Spastic tetraparesis... OMIM:612319
Spinocerebellar Ataxia Type 28
Kinetic tremor, Parkinsonism, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasti... ORPHA:101109
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Cerebellar hypoplasia, Spasticity, Gliosis ORPHA:168486
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired proprioception, Impaired vibratory sensation, Impaired tactile sensa... OMIM:619686
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebral atrophy, Kyphosis, Cerebellar hypoplasia, Obesity, Inability to walk, Ataxia, Unsteady g... OMIM:618443
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Hypotonia, Tremor OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Tr... OMIM:616204
Cerebrooculofacioskeletal Syndrome 1
Cerebellar hypoplasia, Generalized hypotonia, Failure to thrive, Hypotonia, Gliosis, Kyphoscoliosis OMIM:214150
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia,... OMIM:261640
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Cerebellar atrophy, Dysmetria, Frequent falls, Hand tremor, Axonal degeneration, ... OMIM:302800
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Frequent falls, Somatic sensory dysfunction, Hand tremor, Impaired vibratory sensation, Impaired ... ORPHA:99947
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Dystonia, Bradykinesia, Abnormal cerebellum mor... OMIM:618317
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnorm... ORPHA:98773
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Spastic paraparesis, Inability to walk, Scoliosis, Gait disturbance,... ORPHA:101077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia, Axonal degeneration, G... OMIM:208920
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Ataxia, Generalized hypo... ORPHA:527497
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Generalized hypotonia, Neonatal hypotonia, ... OMIM:614867
Spinocerebellar Ataxia 15
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Paralysis, Astrocytosis, Ataxia, Generalized hypotonia, Failure to thrive, Hy... OMIM:203700
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Generalized hypotonia, Scoli... ORPHA:306669
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Scoliosis, Diffuse cerebral a... ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 25
Cerebellar hypoplasia, Truncal ataxia, Dysmetria, Ataxia OMIM:617584
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Dystonia, Ataxia, Tetraplegia, Oculomotor apraxia OMIM:616267
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Dystonia, Basal ganglia gliosis, Small for gestational age, Cerebellar cyst, In... ORPHA:79243
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Kyphosis, Ataxia, Scoliosis, Gait disturbance ORPHA:85317
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Ataxia, Increased neuronal autofluorescent lipopigment, Dysdiadoch... OMIM:256731
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Abnormal pyramidal sign, Cerebellar atrophy, Limb dystonia, Hypotonia, Truncal ataxia, Spasticity... OMIM:617560
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Spastic gait, Spastic paraplegia, Impaired vibration sensation in ... OMIM:607259
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Cerebral atrophy, Dystonia, Kyphosis, Obesity, Lower limb spastic... ORPHA:464282
Progressive Supranuclear Palsy
Dystonia, Blepharospasm, Bradykinesia, Unsteady gait, Rigidity, Cerebral cortical atrophy, Gliosi... ORPHA:683
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Action tremor, Hypertonia, Parkinsonism, Dystonia, Global brain atrophy, Atax... OMIM:619738
Corticobasal Syndrome
Somatic sensory dysfunction, Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb ap... ORPHA:454887
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Steppage gait, Distal sensory impairment, Scoliosis, Spasticity, Babinski sign, Hypertonia OMIM:609260
Cln5 Disease
Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the central nervous system, Inabili... ORPHA:228360
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Progressive cerebellar ataxia, Limb ataxia, Progressive gait ataxia, Truncal ... ORPHA:101112
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Scoliosis, Vocal cord paralysis ORPHA:640
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Atrial septal defect, Cor triatriatum, Splenomegaly, Hep... OMIM:612541
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Distal sensory impairment, Tremor OMIM:616668
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Kyphosis, Impaired pain sensation, Inability... ORPHA:500180
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Generalized hypotonia, Failure to thrive... OMIM:618356
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Kyphosis, Ataxia, Unsteady gait, Scoliosis OMIM:300861
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Leukoencephalopathy With Vanishing White Matter
Unsteady gait, Hypotonia, Generalized hypotonia, Spasticity, Gait disturbance, Gliosis OMIM:603896
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Degeneration of anterior horn cells, Scoliosis, Tongue fasciculat... OMIM:159950
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:617691
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Cerebellar atrophy, Progressive cerebellar ataxia, Spast... OMIM:608768
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Spastic gait, Parkinsonism, Resting tremor, Shuffling gait, Choreoathetosis, Ap... OMIM:300055
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Global brain atrophy, Bradykinesia, Rigidity, Spasticity, Clumsi... OMIM:612953
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebral atrophy, Cerebellar atrophy, Ataxia, Generalized hypotonia, Failure to thrive, Spasticit... OMIM:618426
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Dilated fourth ventricle, Impaired vibratory sensation, F... OMIM:183090
Tay-Sachs Disease
Incoordination, Ankle clonus, Cerebellar atrophy, Dysmetria, Frequent falls, Decerebrate rigidity... ORPHA:845
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Distal sensory impairment, Oculomotor apraxia OMIM:615217
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Generalized hypotonia, Failure to thrive, Hypotonia, Gliosis, Tremor OMIM:220111
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Inability to walk, Scol... ORPHA:2590
You-Hoover-Fong Syndrome
Kyphoscoliosis, Spasticity, Ataxia, Generalized hypotonia OMIM:616954
Spinocerebellar Ataxia 27
Cerebellar atrophy, Impaired vibratory sensation, Head tremor, Ataxia, Gait ataxia, Truncal ataxi... OMIM:609307
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Frequent falls, Dysmetria, Dystonia, Dilated fourth ventricle, Intention trem... ORPHA:251347
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremo... OMIM:615491
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Hypotonia, Myoclonus, Hypertonia OMIM:261630
Hemimegalencephaly
Gliosis, Abnormal neuron morphology, Hemiparesis, Myoclonus ORPHA:99802
Masa Syndrome
Kyphosis, Shuffling gait, Lower limb spasticity, Spastic paraplegia, Hyperlordosis, Paraplegia OMIM:303350
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Inability to walk, Impaired distal vibration sensation, Tongue fasciculations, Ga... ORPHA:276435
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Micropenis OMIM:610680
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, Cerebellar hypoplasia, Gait ataxia, Generalized hypotonia, Spastic... ORPHA:529665
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, S... OMIM:137440
Perrault Syndrome 1
Cerebellar atrophy, Intention tremor, Ataxia, Gait ataxia, Scoliosis, Spastic diplegia OMIM:233400
Dystonia 11, Myoclonic
Generalized hypotonia, Hypotonia, Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Mannosidosis, Alpha B, Lysosomal
Abnormal pyramidal sign, Cerebellar atrophy, Increased vertebral height, Gait ataxia, Spondylolis... OMIM:248500
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Spastic tetraplegia, Cerebellar hypoplasia, Axial hypotonia, Diffuse cerebr... ORPHA:3240
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Action tremor, Intention tremor, Gait ataxia, Postural tremor, Myoclonus OMIM:254900
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Dystonia, Choreoathetosis, Ataxia, Tremor OMIM:612126
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Sandhoff Disease
Failure to thrive, Kyphosis, Ataxia ORPHA:796
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Poor coordination, Ataxia, Cogwheel rigidity, Limb ataxia, Slurred speech, Tr... ORPHA:98772
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Spasticity, A... OMIM:215470
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cataplexy, Inability to walk, A... OMIM:617193
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Spasticity, Ataxia, Tremor OMIM:300983
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Thoracic kyphosis, Impaired tactile sensation, Tremor, Ataxia, Gait ataxia, Generalized hypotonia... OMIM:619092
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Dystonia, Resting tremor, Shuffling gait, Bradykinesia, Rigidity, Gait disturbance,... OMIM:168601
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Infantile muscular hypotonia, Gait distur... ORPHA:391417
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Dystonia, Neurodegene... OMIM:272750
Baralle-Macken Syndrome
Dystonia, Kyphosis, Global brain atrophy, Obesity, Inability to walk, Neonatal hypotonia, Spasticity OMIM:619255
Machado-Joseph Disease Type 1
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Degeneration of the striatum, Dilated four... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Degeneration of the striatum, Dilated four... ORPHA:276241
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Cerebellar hypoplasia, Inability to walk, Tremor, Ataxia, Failure to thrive, Hypotonia, Hypertonia OMIM:619556
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Cerebellar atrophy, Ataxia, Steppage gait, Distal sensory impairment OMIM:607250
Marinesco-Sjogren Syndrome
Kyphosis, Cerebellar cortical atrophy, Ataxia, Gait ataxia, Generalized hypotonia, Failure to thr... OMIM:248800
Aicardi-Goutieres Syndrome 6
Loss of ability to walk, Rigidity, Dystonia, Tremor OMIM:615010
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Focal dystonia, Apraxia, In... ORPHA:240103
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Dysmetria, Kyphosis, Abnormality of the cervical spine, Intention tremor... ORPHA:48431
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Dystonia, Myoclonus, Tremor OMIM:619651
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Spastic paraparesis, Ataxia, Spasticity, Dysdiadochokine... OMIM:614487
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Hemiparesis OMIM:613002
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Incoordination, Abnormal pyramidal sign, Cerebellar hypoplasia, Pontocerebellar... OMIM:618060
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Freezing of gait, Parkinsonism, Focal dystonia, Extrapyramidal muscular ... ORPHA:99750
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Generalized hypotonia, Hypotonia OMIM:615119
Spinocerebellar Ataxia 4
Cerebellar atrophy, Progressive cerebellar ataxia, Distal sensory impairment, Limb dysmetria, Bab... OMIM:600223
Spinocerebellar Ataxia Type 42
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic gait, Resting tremor, C... ORPHA:458803
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spinocerebellar Ataxia 26
Incoordination, Cerebellar atrophy, Gait ataxia, Limb ataxia, Truncal ataxia OMIM:609306
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Atrophy of the spinal cord, Atrophy/... ORPHA:445062
Juvenile Amyotrophic Lateral Sclerosis
Opisthotonus, Dystonia, Scoliosis, Clonus, Axial dystonia, Tip-toe gait, Head titubation, Amyotro... ORPHA:300605
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Gait ataxia, Distal sensory impairment, Kyphoscoliosis, Upper limb postural tremor OMIM:180800
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis, Amyotrophic lateral sclerosis OMIM:105500
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Parkinsonism, Dystonia, Oculogyric crisis, Oromandibular dys... OMIM:613135
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Hypotonia, Generalized hypotonia, Spasticity, Neurodegeneration, Gliosis, Neu... OMIM:616239
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Cerebellar hypoplasia, Spastic dysarthria, Spastic parap... ORPHA:313772
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... OMIM:612020
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Cerebral atrophy, Bradykinesi... OMIM:618877
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Ataxia, Scoliosis, Brain atrophy, Tremor OMIM:278760
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Pelizaeus-Merzbacher Disease
Dystonia, Choreoathetosis, Failure to thrive in infancy, Kyphosis, Ataxia, Hypotonia, Scoliosis, ... ORPHA:702
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Difficulty walking OMIM:613710
Machado-Joseph Disease Type 3
Cerebellar atrophy, Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Dystonia, Di... ORPHA:276244
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Hypertonia, Dystonia, Ataxia, Gait disturbance, Scoliosis, Dy... ORPHA:96
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Kyphosis, Blepharospasm, Hyperlordosis, Generalized hypotonia, Scol... OMIM:128100
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Ataxia, Tremor OMIM:618637
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Impaired p... ORPHA:98755
Hereditary Late-Onset Parkinson Disease
Frequent falls, Parkinsonism, Resting tremor, Shuffling gait, Dystonia, Bradykinesia, Akinesia, R... ORPHA:411602
Spinocerebellar Ataxia, Autosomal Recessive 31
Cerebral atrophy, Dystonia, Choreoathetosis, Cerebellar hypoplasia, Ataxia, Lumbar kyphoscoliosis... OMIM:619422
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Dystonia, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dy... ORPHA:98760
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor, Gait disturbance OMIM:616710
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Frequent falls, Kyphosis, Cerebellar cyst, Hyperlordosis, Scoliosis, Neonatal... OMIM:606612
Spastic Ataxia, Charlevoix-Saguenay Type
Dysmetria, Spastic gait, Cerebellar vermis atrophy, Falls, Impaired vibration sensation in the lo... OMIM:270550
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Tremor ORPHA:65684
Congenital Arthrogryposis With Anterior Horn Cell Disease